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NM_000939.4(POMC):c.429C>G (p.His143Gln) AND POMC-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 22, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004537878.2

Allele description [Variation Report for NM_000939.4(POMC):c.429C>G (p.His143Gln)]

NM_000939.4(POMC):c.429C>G (p.His143Gln)

Gene:
POMC:proopiomelanocortin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_000939.4(POMC):c.429C>G (p.His143Gln)
HGVS:
  • NC_000002.12:g.25161456G>C
  • NG_008997.1:g.12235C>G
  • NM_000939.3:c.429C>G
  • NM_000939.4:c.429C>GMANE SELECT
  • NM_001035256.3:c.429C>G
  • NM_001319204.2:c.429C>G
  • NM_001319205.2:c.429C>G
  • NP_000930.1:p.His143Gln
  • NP_001030333.1:p.His143Gln
  • NP_001306133.1:p.His143Gln
  • NP_001306134.1:p.His143Gln
  • NC_000002.11:g.25384325G>C
  • NM_001035256.1:c.429C>G
Protein change:
H143Q
Links:
dbSNP: rs201519174
NCBI 1000 Genomes Browser:
rs201519174
Molecular consequence:
  • NM_000939.4:c.429C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001035256.3:c.429C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319204.2:c.429C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319205.2:c.429C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
POMC-related disorder
Synonyms:
POMC-Related Disorders; POMC-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004720957PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Aug 22, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004720957.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The POMC c.429C>G variant is predicted to result in the amino acid substitution p.His143Gln. This variant has been reported in the heterozygous state in one individual with obesity but was also reported in one control individual (Lee et al. 2006. PubMed ID: 16459314). It was also observed in a cohort of individuals with obesity, and in vitro functional studies show strong evidence of loss of function (Table 3 and Supplemental Data Set, Shah et al. 2023. PubMed ID: 36864747). This variant is reported in 0.033% of alleles in individuals of European (non-Finnish) descent in gnomAD. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024